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There are several tests available

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Direct Treatment

1. Collection Of Suitable Donor's Blood

Needs to be from a living related or unrealted donor or cadaver donor. MHC must be matched between the donor and the recipient. Blood types should be compatible as well.

[Can't be seen for every case, where the donors 100% match with the recipient but try to be as close]

2. Processing

Separate donor's stem cells from the blood. Blood that DOES NOT contain stem cells are returned back to the donor.

3. Infusion Into Patient

Donor's stem cells transferred into the patient so that bone marrow can produce immune cells that are in deficiency. [T cells and NK cells]

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Currently, there is only one avaliable treatment which is allogeneic hematopoietic stem cell transplantation.

Recap Of Allogeneic Transplant [Disadvantage]: Between genetically different individuals which means this transplant is histo-incompatible that may result in alloreactivity [Reacting in response to a transplanted allograft].

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Explain Which Branch Of Immunity Is Affected

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Explain Which Branch Of Immunity Is Affected

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SCID affects the adaptive branch of immunity. This is because the development and function of the infection-fighting immune cells, which are the T and B cells, are affected.

The humoral immunity would then be affected since the B cells are responsible for the production of antibodies. The body will have an insufficient number or function of B cells, the plasma cells that they differentiate into, or the antibodies secreted by the plasma cells to combat the infection.

The cellular immunity would also be affected since T cells help in identifying and destroying foreign cells. However, having low levels or without T cells would lead to helper T cells unable support other immune cells and cytotoxic T cells cannot kill foreign cells.

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Mostly SCID are caused by mutations in different genes involved in the development and function of infection-fighting immune cells which are usually inherited by a autosomal recessive pattern by the child.
Some types of SCID and causes
X-linked SCID :
Primary cause : Mutation in the interleukin 2 receptor gamma (IL2RG) gene on X-chromosome
Adenosine Deaminase deficiency (ADA) SCID:
Primary cause : Deficiency of ADA enzyme , which is due to the mutation of the gene on chromosome 21 that produces the ADA enzyme.

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The disease affects infants and very young children, with symptoms showing up as early as within the first year after their birth due to their immune systems already being compromised since they were born. If left undetected and untreated, the disease can become fatal within 2 years after birth.

Symptoms of this disease include

1. Very severe and recurring respiratory infections such as pneumonia caused by viruses and bacteria and even rare infections like pneumocystis pneumonia caused by fungal infection

2. Chronic diarrhea

3. Chronic Skin, Liver And Ear Infections

4. Meningitis

5. Yeast Infection Of The Mouth That Could Be Recurrent

6. Rashes On Skin

7. Poor Infant Growth And Failure To Gain Weight

Due to the many severe and recurrent symptoms that the disease causes, quick diagnosis and treatment is needed to control the disease before it becomes fatal.

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Severe Combined Immune Deficiency (SCID)

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Severe Combined Immune Deficiency (SCID)